A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243811



Internal ID22375681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45499031..45560791hg38UCSC Ensembl
Outerchr21:46918945..46980705hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382391
hg192391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5593n152
Supporting Variantsnssv14267144, nssv14267145, nssv14267146
SamplesNA19238, NA19239, NA19240
Known GenesCOL18A1, SLC19A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243811
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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